A personalized genomic-medicine approach to rare genomic disorders associated with simple chromosomal structural variants.

David D, Fino J, Rodrigues M, Nunes SS, Gonçalves R, Freixo JP, Moldovan O, Carvalho I, Oliva-Teles N, Soares AR, Haltrich I, Yu M, Dong Z, Venâncio M, Morton CC.

Open source

DOI
10.1016/j.xhgg.2026.100649
Published
2026-07-06
Container
HGG Adv
Publisher
Not recorded
Open access
yes

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Cite this work

BibTeX

@article{allodium:10.1016/j.xhgg.2026.100649,
  title = {A personalized genomic-medicine approach to rare genomic disorders associated with simple chromosomal structural variants.},
  author = {David D and  Fino J and  Rodrigues M and  Nunes SS and  Gonçalves R and  Freixo JP and  Moldovan O and  Carvalho I and  Oliva-Teles N and  Soares AR and  Haltrich I and  Yu M and  Dong Z and  Venâncio M and  Morton CC.},
  year = {2026},
  journal = {HGG Adv},
  doi = {10.1016/j.xhgg.2026.100649},
  url = {https://doi.org/10.1016/j.xhgg.2026.100649}
}

RIS

TY  - JOUR
TI  - A personalized genomic-medicine approach to rare genomic disorders associated with simple chromosomal structural variants.
AU  - David D
AU  -  Fino J
AU  -  Rodrigues M
AU  -  Nunes SS
AU  -  Gonçalves R
AU  -  Freixo JP
AU  -  Moldovan O
AU  -  Carvalho I
AU  -  Oliva-Teles N
AU  -  Soares AR
AU  -  Haltrich I
AU  -  Yu M
AU  -  Dong Z
AU  -  Venâncio M
AU  -  Morton CC.
PY  - 2026
JO  - HGG Adv
DO  - 10.1016/j.xhgg.2026.100649
UR  - https://doi.org/10.1016/j.xhgg.2026.100649
ER  - 

APA

D, D., J, F., M, R., SS, N., R, G., JP, F., O, M., I, C., N, O., AR, S., I, H., M, Y., Z, D., M, V., & CC., M. (2026). A personalized genomic-medicine approach to rare genomic disorders associated with simple chromosomal structural variants.. HGG Adv. https://doi.org/10.1016/j.xhgg.2026.100649

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